Canonical Allele Identifier: CA916083062

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 854819
• ClinVar RCV Id: RCV001059946
• dbSNP Id: rs1841291870

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127666300_127666303del , CM000671.2:g.127666300_127666303del	GRCh38
NC_000009.11:g.130428579_130428582del , CM000671.1:g.130428579_130428582del	GRCh37
NC_000009.10:g.129468400_129468403del	NCBI36
NG_016623.1:g.59094_59097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.752+4_752+7del
ENST00000704681.1:c.794+4_794+7del
ENST00000373299.5:c.794+4_794+7del
ENST00000373302.8:c.794+4_794+7del
ENST00000626539.3:c.752+4_752+7del
ENST00000635950.2:c.794+4_794+7del
ENST00000636509.2:c.752+4_752+7del
ENST00000636962.2:c.794+4_794+7del
ENST00000637060.2:c.*436+4_*436+7del
ENST00000637173.2:c.752+4_752+7del
ENST00000637464.2:c.*1658+4_*1658+7del
ENST00000637521.2:c.752+4_752+7del
ENST00000637953.1:c.794+4_794+7del
ENST00000647107.1:c.736+4_736+7del
ENST00000650920.1:c.752+4_752+7del
ENST00000373299.4:c.794+4_794+7del
ENST00000373302.7:c.794+4_794+7del
ENST00000626416.2:n.630+4_630+7del
NM_001032221.3:c.794+4_794+7del
NM_003165.3:c.794+4_794+7del
NM_001032221.6:c.794+4_794+7del
NM_001374306.2:c.785+4_785+7del
NM_001374307.2:c.752+4_752+7del
NM_001374308.2:c.752+4_752+7del
NM_001374309.2:c.752+4_752+7del
NM_001374310.2:c.752+4_752+7del
NM_001374311.2:c.752+4_752+7del
NM_001374312.2:c.752+4_752+7del
NM_001374313.2:c.794+4_794+7del
NM_001374314.1:c.794+4_794+7del
NM_001374315.2:c.794+4_794+7del
NM_003165.6:c.794+4_794+7del